ClinVar Miner

Submissions for variant NM_015419.4(MXRA5):c.5693C>G (p.Pro1898Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004263249 SCV003884190 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The c.5693C>G (p.P1898R) alteration is located in exon 6 (coding exon 5) of the MXRA5 gene. This alteration results from a C to G substitution at nucleotide position 5693, causing the proline (P) at amino acid position 1898 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003435996 SCV004164164 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MXRA5: BP4, BS2

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