ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.1515C>T (p.Asn505=)

gnomAD frequency: 0.00438  dbSNP: rs140498607
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000968947 SCV001116431 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968947 SCV001147956 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing HK1: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000968947 SCV002049057 likely benign not provided 2023-04-21 criteria provided, single submitter clinical testing

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