ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.1095+8T>C

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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 RCV003703562 SCV004471347 likely benign not provided 2024-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736377 SCV005344068 likely benign PHIP-related disorder 2023-09-16 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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