ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1401A>G (p.Lys467=)

gnomAD frequency: 0.00057  dbSNP: rs148469697
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730095 SCV000857808 benign not specified 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000885182 SCV001028610 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000885182 SCV005301448 benign not provided criteria provided, single submitter not provided

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