ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2955-10C>G

gnomAD frequency: 0.00001  dbSNP: rs1388469388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499505 SCV001704269 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-03-16 criteria provided, single submitter clinical testing

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