ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.753G>C (p.Leu251=)

gnomAD frequency: 0.00001  dbSNP: rs143843071
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003858387 SCV004654498 likely benign H syndrome 2023-07-12 criteria provided, single submitter clinical testing

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