ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.5504G>A (p.Arg1835His)

dbSNP: rs777055080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896109 SCV001040184 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028459 SCV003696052 uncertain significance not specified 2022-01-27 criteria provided, single submitter clinical testing The c.5504G>A (p.R1835H) alteration is located in exon 38 (coding exon 36) of the MYH8 gene. This alteration results from a G to A substitution at nucleotide position 5504, causing the arginine (R) at amino acid position 1835 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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