ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.742G>A (p.Val248Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005016209 SCV005651249 uncertain significance Basal cell carcinoma, susceptibility to, 1; Medulloblastoma 2024-03-13 criteria provided, single submitter clinical testing

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