ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.174G>A (p.Pro58=)

gnomAD frequency: 0.00034  dbSNP: rs372411796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354762 SCV000351322 likely benign Autoimmune lymphoproliferative syndrome type 1 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000354762 SCV001054797 benign Autoimmune lymphoproliferative syndrome type 1 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884448 SCV004700591 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FASLG: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003884448 SCV005258124 likely benign not provided criteria provided, single submitter not provided

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