ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.267del (p.Lys89fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics, Clalit Research Institute, Clalit Health Care RCV005254291 SCV005888606 likely pathogenic Basal cell nevus syndrome 1 2025-02-28 criteria provided, single submitter clinical testing Frequency: The variant is absent from the gnomAD reference population dataset. Variant type: Null variant (frameshift) in a gene where loss of function is a known mechanism of disease. Predicted to undergo NMD. Clinical evidence: To date, the variant has not been described by reputable sources or in the primary literature.

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