ClinVar Miner

Submissions for variant NM_017947.4(MOCOS):c.981G>A (p.Ala327=)

gnomAD frequency: 0.00711  dbSNP: rs35497696
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969383 SCV001116899 benign Xanthinuria type II 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000969383 SCV002801866 likely benign Xanthinuria type II 2021-07-24 criteria provided, single submitter clinical testing

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