ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)

gnomAD frequency: 0.00001  dbSNP: rs770898485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235591 SCV001408282 benign Hereditary hemorrhagic telangiectasia 2022-12-06 criteria provided, single submitter clinical testing

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