ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)

dbSNP: rs150729680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065530 SCV001230489 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001065530 SCV001765864 uncertain significance not provided 2021-03-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002555843 SCV003610405 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.3026C>T (p.A1009V) alteration is located in exon 15 (coding exon 14) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 3026, causing the alanine (A) at amino acid position 1009 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271233 SCV001452244 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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