ClinVar Miner

Submissions for variant NC_000001.11:g.230703204A>G

gnomAD frequency: 0.00006  dbSNP: rs371051808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885589 SCV001029048 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487940 SCV002795778 likely benign Essential hypertension, genetic; Renal tubular dysgenesis of genetic origin 2022-01-14 criteria provided, single submitter clinical testing

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