ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys)

dbSNP: rs1600486197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene Discovery Core-Manton Center, Boston Children's Hospital RCV000791348 SCV000930677 likely pathogenic Acrodysostosis 1 with or without hormone resistance 2019-02-05 no assertion criteria provided clinical testing

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