ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.723C>T (p.Leu241=)

gnomAD frequency: 0.00001  dbSNP: rs763353584
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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 RCV001414677 SCV001616817 likely benign H syndrome 2020-02-17 criteria provided, single submitter clinical testing

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