ClinVar Miner

Submissions for variant NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro) (rs869312749)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000210066 SCV000258416 pathogenic Deafness, autosomal recessive 68 2016-01-08 no assertion criteria provided research
OMIM RCV000210066 SCV000265988 pathogenic Deafness, autosomal recessive 68 2017-10-19 no assertion criteria provided literature only

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