Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037040 | SCV000060696 | uncertain significance | not specified | 2013-02-02 | criteria provided, single submitter | clinical testing | The Arg1102Trp variant in MYH14 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. Additional data is needed t o determine the clinical significance of this variant. |
Fulgent Genetics, |
RCV002477089 | SCV002777764 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513455 | SCV003298567 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing |