ClinVar Miner

Submissions for variant NM_014889.4(PITRM1):c.548G>A (p.Arg183Gln)

gnomAD frequency: 0.00001  dbSNP: rs1249144069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001530971 SCV001745890 pathogenic Spinocerebellar ataxia, autosomal recessive 30 2021-07-06 no assertion criteria provided literature only

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