ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=)

gnomAD frequency: 0.00026  dbSNP: rs151204426
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940629 SCV001086493 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276107 SCV001461955 likely benign Abetalipoproteinaemia 2019-12-29 no assertion criteria provided clinical testing

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