ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.978-7C>T

gnomAD frequency: 0.00051  dbSNP: rs190927208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440521 SCV000530978 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000440521 SCV000602386 likely benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Invitae RCV000953568 SCV001100142 likely benign Combined malonic and methylmalonic acidemia 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942427 SCV004758264 likely benign ACSF3-related condition 2019-03-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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