ClinVar Miner

Submissions for variant NM_004795.4(KL):c.2684T>C (p.Ile895Thr)

gnomAD frequency: 0.00001  dbSNP: rs387907441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002483077 SCV002776729 uncertain significance Tumoral calcinosis, hyperphosphatemic, familial, 3 2021-07-08 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054734 SCV000077424 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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