ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283650 SCV002572609 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Synonymous variant that is predicted to alter the splicing. See below. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.70). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV002283650 SCV004201867 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-09-13 criteria provided, single submitter clinical testing

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