ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1407C>T (p.Asp469=)

gnomAD frequency: 0.00001  dbSNP: rs749203075
Minimum review status: Collection method:
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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 RCV001453490 SCV001657185 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826277 SCV002082435 likely benign Abetalipoproteinaemia 2021-07-12 no assertion criteria provided clinical testing

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