ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.393+5A>G

gnomAD frequency: 0.00001  dbSNP: rs771577895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329128 SCV001520461 uncertain significance Abetalipoproteinaemia 2019-08-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004692522 SCV005190195 uncertain significance not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782710 SCV005394409 uncertain significance not specified 2024-09-15 criteria provided, single submitter clinical testing

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