ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1587C>T (p.Asp529=)

gnomAD frequency: 0.00001  dbSNP: rs772895745
Minimum review status: Collection method:
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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
Invitae RCV001273209 SCV001667450 likely benign Cystic fibrosis 2018-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273209 SCV001455980 uncertain significance Cystic fibrosis 2020-03-10 no assertion criteria provided clinical testing

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