ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1779C>T (p.Leu593=)

gnomAD frequency: 0.00003  dbSNP: rs147434450
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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 RCV003768659 SCV001008988 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-05-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000867730 SCV001155473 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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