ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.12967-4C>G

gnomAD frequency: 0.00096  dbSNP: rs374953824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964430 SCV001111636 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479119 SCV002794840 likely benign Macrocephaly, dysmorphic facies, and psychomotor retardation 2022-05-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964430 SCV004033396 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing HERC1: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000964430 SCV005215039 likely benign not provided criteria provided, single submitter not provided

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