ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2532C>T (p.Asn844=)

dbSNP: rs760598224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615662 SCV000725657 likely benign not specified 2017-12-14 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 RCV001504486 SCV001709366 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-12-18 criteria provided, single submitter clinical testing

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