ClinVar Miner

Submissions for variant NM_005338.7(HIP1):c.324G>A (p.Pro108=)

gnomAD frequency: 0.00133  dbSNP: rs144446822
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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 RCV000911482 SCV001056548 benign not provided 2018-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902893 SCV004721096 likely benign HIP1-related disorder 2019-03-06 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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