ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.774-6C>T

gnomAD frequency: 0.00011  dbSNP: rs185479915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065487 SCV002436466 benign H syndrome 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334025 SCV004042488 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SLC29A3: BP4

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