ClinVar Miner

Submissions for variant NM_004795.4(KL):c.1371A>C (p.Ala457=)

gnomAD frequency: 0.00202  dbSNP: rs150268586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115776 SCV002409886 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500022 SCV002808435 likely benign Tumoral calcinosis, hyperphosphatemic, familial, 3 2021-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951098 SCV004762485 likely benign KL-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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