Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002507279 | SCV002796377 | uncertain significance | Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia | 2022-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535040 | SCV003750499 | uncertain significance | Inborn genetic diseases | 2021-05-18 | criteria provided, single submitter | clinical testing | The c.610A>G (p.I204V) alteration is located in exon 6 (coding exon 5) of the ALPL gene. This alteration results from a A to G substitution at nucleotide position 610, causing the isoleucine (I) at amino acid position 204 to be replaced by a valine (V). The in silico prediction for the p.I204V alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gharavi Laboratory, |
RCV000723000 | SCV000854131 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |