ClinVar Miner

Submissions for variant NM_004795.4(KL):c.2862G>A (p.Pro954=)

gnomAD frequency: 0.00009  dbSNP: rs387907447
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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 RCV000054735 SCV002257235 likely benign not provided 2024-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483078 SCV002796431 uncertain significance Tumoral calcinosis, hyperphosphatemic, familial, 3 2022-02-10 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054735 SCV000077425 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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