ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14457A>C (p.Thr4819=)

gnomAD frequency: 0.00001  dbSNP: rs1044359801
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001448583 SCV001651678 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing

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