ClinVar Miner

Submissions for variant NM_006929.5(SKIC2):c.2574G>A (p.Val858=)

gnomAD frequency: 0.00350  dbSNP: rs139281450
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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 RCV001155551 SCV001316987 benign Trichohepatoenteric syndrome 2 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001509786 SCV001716660 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001509786 SCV002545404 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing SKIC2: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics RCV001155551 SCV002796862 likely benign Trichohepatoenteric syndrome 2 2021-11-10 criteria provided, single submitter clinical testing

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