ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.387C>T (p.Thr129=)

dbSNP: rs1582780697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998598 SCV001154743 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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