ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.-38C>T

gnomAD frequency: 0.00001  dbSNP: rs375977724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437296 SCV000530674 likely benign not specified 2016-08-05 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.
CeGaT Center for Human Genetics Tuebingen RCV003389805 SCV004130204 benign not provided 2022-08-01 criteria provided, single submitter clinical testing SPTLC2: BS1, BS2

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