ClinVar Miner

Submissions for variant NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu)

gnomAD frequency: 0.01935  dbSNP: rs142631461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250150 SCV000310902 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545686 SCV000638311 benign Cataract 10 multiple types 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001571447 SCV001795928 likely benign not provided 2023-06-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV001571447 SCV005212388 likely benign not provided criteria provided, single submitter not provided

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