ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)

dbSNP: rs774221257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850386 SCV000992573 likely pathogenic Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 2019-05-29 criteria provided, single submitter research ACMG codes: PS2, PM1, PM2, PP3

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