ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.418-9T>G

gnomAD frequency: 0.00009  dbSNP: rs760094704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420093 SCV000531222 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV005222933 SCV005865946 benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912751 SCV004735443 likely benign WASHC5-related disorder 2020-08-04 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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