ClinVar Miner

Submissions for variant NM_139076.3(ABRAXAS1):c.476+18A>T

gnomAD frequency: 0.00096  dbSNP: rs199567861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160463 SCV000211028 benign not specified 2013-10-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002053924 SCV002408010 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002053924 SCV005300969 benign not provided criteria provided, single submitter not provided

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