ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.618C>T (p.Ala206=)

gnomAD frequency: 0.00398  dbSNP: rs141413620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559006 SCV000644962 benign H syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702802 SCV001927432 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726230 SCV001964377 benign not specified no assertion criteria provided clinical testing

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