ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5732-3C>T

gnomAD frequency: 0.00024  dbSNP: rs370245982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733828 SCV000861928 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082692 SCV001001347 likely benign Transposition of the great arteries, dextro-looped 2023-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000733828 SCV001889774 benign not provided 2020-09-17 criteria provided, single submitter clinical testing

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