ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.2410G>A (p.Val804Ile)

gnomAD frequency: 0.00066  dbSNP: rs141213887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328721 SCV001519905 uncertain significance Autosomal recessive spinocerebellar ataxia 20 2020-04-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001597267 SCV001830829 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001597267 SCV003271666 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing

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