ClinVar Miner

Submissions for variant NM_005338.7(HIP1):c.540C>T (p.Asn180=)

gnomAD frequency: 0.00160  dbSNP: rs148290305
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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 RCV000973409 SCV001121166 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973409 SCV004162307 benign not provided 2022-04-01 criteria provided, single submitter clinical testing HIP1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000973409 SCV005271696 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003953327 SCV004771639 likely benign HIP1-related disorder 2019-07-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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