ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.90C>T (p.Ser30=)

gnomAD frequency: 0.00612  dbSNP: rs118089506
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228985 SCV000291101 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508388 SCV000605209 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120030 SCV001278492 benign Fanconi anemia complementation group P 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV001532269 SCV001747749 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7, BS2
GeneDx RCV001532269 SCV001765925 likely benign not provided 2021-09-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22383991)
Genetic Services Laboratory, University of Chicago RCV000508388 SCV002068126 likely benign not specified 2021-01-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000228985 SCV002529400 benign Fanconi anemia 2020-07-28 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001120030 SCV002811168 likely benign Fanconi anemia complementation group P 2021-07-26 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001120030 SCV004015489 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000508388 SCV001364618 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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