ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)

dbSNP: rs1215273187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198186 SCV001369056 uncertain significance Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2019-07-23 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732070 SCV001984565 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2020-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033478 SCV005014814 uncertain significance Inborn genetic diseases 2022-03-31 criteria provided, single submitter clinical testing The c.5978A>C (p.H1993P) alteration is located in exon 41 (coding exon 40) of the MYH14 gene. This alteration results from a A to C substitution at nucleotide position 5978, causing the histidine (H) at amino acid position 1993 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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