ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.10547-7C>T

gnomAD frequency: 0.00205  dbSNP: rs192840076
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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 RCV000905429 SCV001050013 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000905429 SCV001819258 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502690 SCV002811859 likely benign Macrocephaly, dysmorphic facies, and psychomotor retardation 2021-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000905429 SCV004132633 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing HERC1: BP4, BS2

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