ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)

gnomAD frequency: 0.00001  dbSNP: rs200521328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047098 SCV001211033 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160360 SCV003889143 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.11382A>G (p.I3794M) alteration is located in exon 58 (coding exon 57) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 11382, causing the isoleucine (I) at amino acid position 3794 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271136 SCV001451989 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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