ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro)

dbSNP: rs2034878363
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001249223 SCV001423157 not provided Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03-12-2018 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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