ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2340T>C (p.Asn780=)

dbSNP: rs1578257346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000979553 SCV001127498 likely benign not provided 2023-03-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827093 SCV002082458 likely benign Abetalipoproteinaemia 2021-02-17 no assertion criteria provided clinical testing

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