ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1031T>C (p.Ile344Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV005229525 SCV005870929 benign Pachyonychia congenita 3 2025-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity. GnomAD 4.1.0 frequency 0.000003098 5 homozygotes. Frequency in internal database for tests positives for other diseases.

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