ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.207A>G (p.Gln69=)

gnomAD frequency: 0.00013  dbSNP: rs144137525
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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 RCV001946919 SCV002238683 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497882 SCV002804408 likely benign Combined oxidative phosphorylation deficiency 44 2021-12-29 criteria provided, single submitter clinical testing

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