ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.570C>T (p.Asn190=)

gnomAD frequency: 0.00777  dbSNP: rs2228514
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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 RCV000960805 SCV001107825 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000960805 SCV001805383 likely benign not provided 2021-09-21 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000960805 SCV002035350 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796828 SCV002037704 benign not specified no assertion criteria provided clinical testing

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