ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.1165-20T>C

gnomAD frequency: 0.00638  dbSNP: rs116858625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516666 SCV001724978 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001516666 SCV001942383 benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516666 SCV005317693 benign not provided criteria provided, single submitter not provided

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