ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.715G>A (p.Ala239Thr)

gnomAD frequency: 0.00058  dbSNP: rs561314990
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540203 SCV000655014 benign Cataract 21 multiple types; Ayme-Gripp syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001552436 SCV001773122 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001552436 SCV005219227 likely benign not provided criteria provided, single submitter not provided

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