ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3181+4C>T

gnomAD frequency: 0.00073  dbSNP: rs372154199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427489 SCV000531423 likely benign not specified 2016-08-30 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.
Invitae RCV000983914 SCV001131962 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-12-23 criteria provided, single submitter clinical testing

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