ClinVar Miner

Submissions for variant NM_018646.6(TRPV6):c.402C>T (p.Ala134=)

gnomAD frequency: 0.00006  dbSNP: rs387907545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000054754 SCV004511447 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054754 SCV000077444 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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