ClinVar Miner

Submissions for variant NM_024101.7(MLPH):c.1776+10del

dbSNP: rs775270028
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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 RCV002127446 SCV002401614 benign not provided 2022-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951120 SCV004763379 likely benign MLPH-related disorder 2020-07-13 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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