ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.840G>C (p.Met280Ile)

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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 RCV004959218 SCV005452928 uncertain significance Inborn genetic diseases 2024-07-26 criteria provided, single submitter clinical testing The c.840G>C (p.M280I) alteration is located in exon 8 (coding exon 8) of the ABCC6 gene. This alteration results from a G to C substitution at nucleotide position 840, causing the methionine (M) at amino acid position 280 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017297 SCV005645530 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-05-08 criteria provided, single submitter clinical testing

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