ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter)

dbSNP: rs1725886004
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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. RCV001263776 SCV001441869 likely pathogenic Abetalipoproteinaemia 2020-01-04 criteria provided, single submitter clinical testing

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