ClinVar Miner

Submissions for variant NM_030954.4(RNF170):c.374G>A (p.Ser125Asn)

gnomAD frequency: 0.00204  dbSNP: rs144435181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625330 SCV000744964 likely benign Autosomal dominant sensory ataxia 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000955393 SCV001102096 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955393 SCV004157574 benign not provided 2023-04-01 criteria provided, single submitter clinical testing RNF170: BS1, BS2
Clinical Genetics, Academic Medical Center RCV001700272 SCV001920158 benign not specified no assertion criteria provided clinical testing

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