ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn)

gnomAD frequency: 0.00001  dbSNP: rs1482821042
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
Natera, Inc. RCV001277532 SCV001464492 uncertain significance Usher syndrome type 2A 2020-08-28 no assertion criteria provided clinical testing

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