ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.6225+4C>T

gnomAD frequency: 0.00475  dbSNP: rs141414233
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503863 SCV000595120 likely benign not specified 2016-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000894056 SCV001038021 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000894056 SCV001866031 benign not provided 2019-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894056 SCV002545280 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing HERC1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000894056 SCV005215063 likely benign not provided criteria provided, single submitter not provided

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