ClinVar Miner

Submissions for variant NM_182649.2(PCNA):c.683G>T (p.Ser228Ile)

gnomAD frequency: 0.00001  dbSNP: rs369958038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000132551 SCV001529222 uncertain significance Ataxia-telangiectasia-like disorder 2 2018-04-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000132551 SCV000187663 pathogenic Ataxia-telangiectasia-like disorder 2 2014-07-01 no assertion criteria provided literature only

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