ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter)

dbSNP: rs1725580386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263697 SCV001441789 likely pathogenic Abetalipoproteinaemia 2019-01-25 criteria provided, single submitter clinical testing

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